Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KRTAP5-3 Gene

Aliases for KRTAP5-3 Gene

  • Keratin Associated Protein 5-3 2 3 5
  • Ultrahigh Sulfur Keratin-Associated Protein 5.3 3 4
  • Keratin-Associated Protein 5-9 3 4
  • Keratin-Associated Protein 5.3 3 4
  • Keratin-Associated Protein 5.9 3 4
  • KRTAP5-9 3 4
  • KRTAP5.3 3 4
  • Keratin-Associated Protein 5-3 3
  • UHS KerB-Like 4
  • KRTAP5.9 4
  • KAP5-9 4
  • KAP5.3 4

External Ids for KRTAP5-3 Gene

Previous GeneCards Identifiers for KRTAP5-3 Gene

  • GC00U913939
  • GC11U900658
  • GC11M001585
  • GC11M001628
  • GC11M001421

Summaries for KRTAP5-3 Gene

GeneCards Summary for KRTAP5-3 Gene

KRTAP5-3 (Keratin Associated Protein 5-3) is a Protein Coding gene. Among its related pathways are Keratinization and Developmental Biology.

UniProtKB/Swiss-Prot for KRTAP5-3 Gene

  • In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP5-3 Gene

Genomics for KRTAP5-3 Gene

Regulatory Elements for KRTAP5-3 Gene

Enhancers for KRTAP5-3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G001318 0.7 FANTOM5 Ensembl 7.1 +290.4 290363 0.6 ZNF366 PRDM1 MUC5AC KRTAP5-3 KRTAP5-6 KRTAP5-5 KRTAP5-1 GC11P001310 LOC105376513
GH11G001825 1.9 FANTOM5 Ensembl ENCODE dbSUPER 2.1 -222.5 -222540 10.4 HDGF MLX ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 ZNF207 SYT8 KRTAP5-3 KRTAP5-5 GC11P001831 TNNI2
GH11G001545 1.8 FANTOM5 Ensembl ENCODE dbSUPER 1.5 +60.6 60618 4.2 ATF1 SIN3A ETS1 GLIS2 KLF7 SP3 REST MEF2D MYNN GLIS1 KRTAP5-AS1 MOB2 TNNI2 TNNT3 BRSK2 DUSP8 KRTAP5-3 LOC101927562 GC11P001533
GH11G001730 0.5 FANTOM5 5.2 -122.2 -122212 0.4 ZNF335 TARDBP MNT ZBTB33 KRTAP5-6 ENSG00000235027 KRTAP5-1 ENSG00000250644 ENSG00000229512 CTSD KRTAP5-5 LOC100505570 FAM99B KRTAP5-3
GH11G001388 0.8 FANTOM5 dbSUPER 1.6 +220.0 219994 0.3 RFX1 NR2F6 HNRNPL EZH2 KRTAP5-1 KRTAP5-5 KRTAP5-6 KRTAP5-3 GC11P001384 BRSK2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KRTAP5-3 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRTAP5-3 Gene

Chromosome:
11
Start:
1,607,565 bp from pter
End:
1,608,463 bp from pter
Size:
899 bases
Orientation:
Minus strand

Genomic View for KRTAP5-3 Gene

Genes around KRTAP5-3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP5-3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP5-3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP5-3 Gene

Proteins for KRTAP5-3 Gene

  • Protein details for KRTAP5-3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6L8H2-KRA53_HUMAN
    Recommended name:
    Keratin-associated protein 5-3
    Protein Accession:
    Q6L8H2
    Secondary Accessions:
    • Q6PL44
    • Q701N3

    Protein attributes for KRTAP5-3 Gene

    Size:
    238 amino acids
    Molecular mass:
    22106 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP5-3 Gene

Post-translational modifications for KRTAP5-3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRTAP5-3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP5-3 Gene

Domains & Families for KRTAP5-3 Gene

Gene Families for KRTAP5-3 Gene

Protein Domains for KRTAP5-3 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP5-3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6L8H2

UniProtKB/Swiss-Prot:

KRA53_HUMAN :
  • Belongs to the KRTAP type 5 family.
Family:
  • Belongs to the KRTAP type 5 family.
genes like me logo Genes that share domains with KRTAP5-3: view

Function for KRTAP5-3 Gene

Molecular function for KRTAP5-3 Gene

UniProtKB/Swiss-Prot Function:
In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.

Phenotypes for KRTAP5-3 Gene

GenomeRNAi human phenotypes for KRTAP5-3:
genes like me logo Genes that share phenotypes with KRTAP5-3: view

Animal Model Products

CRISPR Products

miRNA for KRTAP5-3 Gene

miRTarBase miRNAs that target KRTAP5-3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KRTAP5-3 Gene

Localization for KRTAP5-3 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KRTAP5-3 gene
Compartment Confidence
cytosol 5
extracellular 3
cytoskeleton 2
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KRTAP5-3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
GO:0045095 keratin filament IEA --
genes like me logo Genes that share ontologies with KRTAP5-3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRTAP5-3 Gene

Pathways & Interactions for KRTAP5-3 Gene

SuperPathways for KRTAP5-3 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP5-3: view

Pathways by source for KRTAP5-3 Gene

2 Reactome pathways for KRTAP5-3 Gene

Interacting Proteins for KRTAP5-3 Gene

Selected Interacting proteins: Q6L8H2-KRA53_HUMAN for KRTAP5-3 Gene via UniProtKB

Gene Ontology (GO) - Biological Process for KRTAP5-3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP5-3: view

No data available for SIGNOR curated interactions for KRTAP5-3 Gene

Drugs & Compounds for KRTAP5-3 Gene

(1) Drugs for KRTAP5-3 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Beta-D-Glucose Experimental Pharma Target 0
genes like me logo Genes that share compounds with KRTAP5-3: view

Transcripts for KRTAP5-3 Gene

mRNA/cDNA for KRTAP5-3 Gene

(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP5-3 Gene

No ASD Table

Relevant External Links for KRTAP5-3 Gene

GeneLoc Exon Structure for
KRTAP5-3
ECgene alternative splicing isoforms for
KRTAP5-3

Expression for KRTAP5-3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRTAP5-3 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP5-3 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x47.7) and Skin - Sun Exposed (Lower leg) (x4.2).

SOURCE GeneReport for Unigene cluster for KRTAP5-3 Gene:

Hs.532471

mRNA Expression by UniProt/SwissProt for KRTAP5-3 Gene:

Q6L8H2-KRA53_HUMAN
Tissue specificity: Restricted to hair root, not detected in any other tissues.

Evidence on tissue expression from TISSUES for KRTAP5-3 Gene

  • Skin(4)
genes like me logo Genes that share expression patterns with KRTAP5-3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTAP5-3 Gene

Orthologs for KRTAP5-3 Gene

Evolution for KRTAP5-3 Gene

ENSEMBL:
Gene Tree for KRTAP5-3 (if available)
TreeFam:
Gene Tree for KRTAP5-3 (if available)

No data available for Orthologs for KRTAP5-3 Gene

Paralogs for KRTAP5-3 Gene

No data available for Paralogs for KRTAP5-3 Gene

Variants for KRTAP5-3 Gene

Sequence variations from dbSNP and Humsavar for KRTAP5-3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1002018975 -- 1,607,313(+) AGGAG(G/T)TTGCG downstream-variant-500B
rs1002081205 -- 1,607,133(+) AAGGC(A/G)AAGCC downstream-variant-500B
rs1003554553 -- 1,608,375(+) AGCCA(A/G)AGCAG reference, missense
rs1005482515 -- 1,608,029(+) CAGCC(C/T)CCCTT reference, synonymous-codon
rs1006046959 -- 1,609,559(+) TAAGG(C/T)AAAAT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for KRTAP5-3 Gene

Variant ID Type Subtype PubMed ID
esv2743946 CNV deletion 23290073
esv2761643 CNV gain 21179565
esv991273 CNV deletion 20482838
nsv1051627 CNV gain 25217958
nsv1149809 CNV deletion 26484159
nsv552999 CNV gain 21841781
nsv553000 CNV gain 21841781

Variation tolerance for KRTAP5-3 Gene

Residual Variation Intolerance Score: 77.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.61; 56.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRTAP5-3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP5-3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP5-3 Gene

Disorders for KRTAP5-3 Gene

Relevant External Links for KRTAP5-3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP5-3

No disorders were found for KRTAP5-3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP5-3 Gene

Publications for KRTAP5-3 Gene

  1. Identification of two novel clusters of ultrahigh-sulfur keratin- associated protein genes on human chromosome 11. (PMID: 15144888) Yahagi S. … Shimizu N. (Biochem. Biophys. Res. Commun. 2004) 2 3 4 64

Products for KRTAP5-3 Gene

Sources for KRTAP5-3 Gene

Content
Loading form....